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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A delay in speech development may be a symptom of many disorders, including mental retardation, hearing loss, an expressive language disorder, psychosocial deprivation, autism, elective mutism, receptive aphasia and cerebral palsy. Speech delay may be secondary to maturation delay or bilingualism. Being familiar with the factors to look for when taking the history and performing the physical examination allows physicians to make a prompt diagnosis. Timely detection and early intervention may mitigate the emotional, social and cognitive deficits of this disability and improve the outcome.
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PMID:Evaluation and management of the child with speech delay. 1039 94

CASE 1: At 3 years of age, Billy was seen by his pediatrician for a well child visit. Spontaneous speech was limited during the visit. He did not interact with the pediatrician and attempts to play with Billy resulted in oppositional behavior. About 3 months after the visit, Billy's parents requested a developmental evaluation; he was diagnosed with autism by means of an observational measure and a parent interview. Billy was born full term after an uncomplicated labor, delivery and postnatal period. Motor milestones were normal. His parents recalled that he used his finger to point to an object prior to using words. He spoke several single words by his first birthday and used phrases before age 2 years. Billy was described as often having difficulty with transitions, but he is happy and outgoing in familiar situations. At 3 years old, when he started preschool, Billy did not speak to either the teacher or other children. This pattern of refusal to speak persists. His parents report that he talks to them and one uncle using complete sentences with clear speech. Billy prefers to repeat activities and is reluctant to try activities. He frequently plays with the same toy cars placing them in a neat line and becomes upset if things are not done in the same way. An uncle has Asperger syndrome. CASE 2: Juan, a 3 year old Mexican-American boy, was referred by his preschool teacher because "he does not interact with other children or use language at an age-appropriate level." He prefers to play alone, resists participation in group activities at preschool, and does not share as well as other students according to his teacher. Expressive language with speech is rarely seen in preschool. In contrast, at home he plays interactively, shares toys with his older brother and speaks in short, clear sentences. In preschool, English is spoken exclusively. At home, Spanish is the primary language. Prenatal and birth histories were uneventful. Motor and social milestones were achieved art the expected times. He spoke his first word at 18 months and 2-word phrases at 2 years. Currently, he speaks in full sentences with pleurals and pronouns. He follows commands and recently had a normal audiogram. His parents, who speak English with ease, are concerned about the teacher's observations at school. The physical examination was normal; the developmental and behavioral assessments were conducted by an English speaking clinician. Juan played interactively with toys while demonstrating curiosity, showing and joint attention. There was no speech production during a 30 minute period although he did follow directions. When a Spanish speaking clinician assumed responsibility for the assessment, Juan's speech production increased significantly. He told a story about his drawing and talked about the family dog and his brother. He had good eye contact and appropriate pragmatic speech when the dialogue was in Spanish.
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PMID:It looks like autism: caution in diagnosis. 1830 20

To begin to delineate the psychological characteristics associated with classic 7q11.23 duplication syndrome (duplication of the classic Williams syndrome region; hereafter classic Dup7), we tested 63 children with classic Dup7 aged 4-17 years. Sixteen toddlers aged 18-45 months with classic Dup7 and 12 adults identified by cascade testing also were assessed. For the child group, median General Conceptual Ability (similar to IQ) on the Differential Ability Scales-II was 85.0 (low average), with a range from severe disability to high average ability. Median reading and mathematics achievement standard scores were at the low average to average level, with a range from severe impairment to high average or superior ability. Adaptive behavior was considerably more limited; median Scales of Independent Behavior-Revised Broad Independence standard score was 62.0 (mild impairment), with a range from severe adaptive impairment to average adaptive ability. Anxiety disorders were common, with 50.0% of children diagnosed with Social Phobia, 29.0% with Selective Mutism, 12.9% with Separation Anxiety Disorder, and 53.2% with Specific Phobia. In addition, 35.5% were diagnosed with Attention Deficit/Hyperactivity Disorder and 24.2% with Oppositional Defiant Disorder or Disruptive Behavior Disorder-Not Otherwise Specified. 33.3% of the children screened positive for a possible Autism Spectrum Disorder and 82.3% were diagnosed with Speech Sound Disorder. We compare these findings to previously reported results for children with Williams syndrome and argue that genotype/phenotype studies involving the Williams syndrome region offer important opportunities to understand the contribution of genes in this region to common disorders affecting the general population.
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PMID:Children with 7q11.23 duplication syndrome: psychological characteristics. 2590 Jan 1

Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12-18yrs; >18yrs) comparisons of SQID scores were conducted. Rates of behaviors indicative of selective mutism were also examined. Fragile X syndrome achieved the lowest SQID scores. Cornelia de Lange, ASD, and Fragile X groups scored significantly lower than Angelman, Down and Rubinstein Taybi groups. Selective mutism characteristics were highest in Cornelia de Lange (40%) followed by Fragile X (17.8%) and ASD (18.2%). Age-band differences were identified in Cornelia de Lange and Down syndrome.
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PMID:A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder. 2780 4